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Chunk #24 — Genomics and the pediatric patient — Undiagnosed disease

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Genomics, personalized medicine, and pediatrics.
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Exome and whole genome sequencing may have a role in managing a broad array of conditions, both common and rare. Sequencing forms a centerpiece of the NIH’s Undiagnosed Disease Program, and related efforts elsewhere, which have had some notable successes in diagnosing and treating perplexing clinical problems.63 There is evidence that sequencing might help unravel relatively common conditions relevant to pediatric practice, with a recent report showing a diagnostic yield of 16% from exome sequencing in a series of patient of various ages with unexplained severe intellectual disability.64